The patient’s voice: real-world experiences of a transthyretin amyloidosis focus group

Transthyretin amyloidosis (ATTR) is a progressive, multisystemic disorder that severely impacts patient quality of life. Despite therapeutic advancements, significant delays in diagnosis and care persist, often due to insufficient awareness among healthcare professionals. We aimed to highlight the experiences of patients living with ATTR in Spain in order to understand their daily challenges within the healthcare system. As part of the CARABELA-ATTR initiative, we conducted a focus group discussion with six patients with confirmed ATTR from different regions of Spain. The discussions explored three main areas: (1) communication and coordination between healthcare professionals and patients; (2) patient education, focusing on awareness, knowledge, and engagement; and (3) emotions, quality of life, and living with the disease, which explored the physical and emotional impacts of ATTR. Participants reported significant challenges, including diagnosis and treatment delays, fragmented care due to poor coordination between specialists, and barriers to accessing treatments and care, both financial and administrative. The physical and psychological toll of the disease was explored. Patients who received multidisciplinary care at specialized centres reported more positive experiences, emphasizing the importance of coordinated care and timely interventions. This study amplifies patients’ voices to underscore their unmet needs in the current ATTR care pathway, including increased awareness, earlier diagnosis, enhanced coordination among specialists, and equitable access to specialized care. Integrating mental health support and patient education into care plans is critical for improving the well-being of ATTR patients. These findings advocate for a more patient-centred, comprehensive approach to ATTR care.